List of variants reported as likely pathogenic for Mucopolysaccharidosis type 1 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)	rs368454909	0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)	rs794727896	0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)	rs794727240	0.00001
NM_000203.5(IDUA):c.299+1G>T	rs398123259	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)	rs121965021
NM_000203.5(IDUA):c.1893del (p.Phe632fs)	rs1553917754
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)	rs886043347

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